Incidental Mutation 'R6467:Nol11'
ID516664
Institutional Source Beutler Lab
Gene Symbol Nol11
Ensembl Gene ENSMUSG00000018433
Gene Namenucleolar protein 11
Synonyms1500002M01Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.945) question?
Stock #R6467 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location107166663-107189381 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 107181086 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 227 (I227K)
Ref Sequence ENSEMBL: ENSMUSP00000102368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018577] [ENSMUST00000106757]
Predicted Effect possibly damaging
Transcript: ENSMUST00000018577
AA Change: I227K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000018577
Gene: ENSMUSG00000018433
AA Change: I227K

DomainStartEndE-ValueType
SCOP:d1jmxb_ 32 176 3e-3 SMART
Pfam:NUC205 200 243 3.7e-26 PFAM
low complexity region 619 629 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106757
AA Change: I227K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102368
Gene: ENSMUSG00000018433
AA Change: I227K

DomainStartEndE-ValueType
SCOP:d1jmxb_ 32 176 3e-3 SMART
Pfam:NUC205 200 243 7.3e-29 PFAM
low complexity region 599 609 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136917
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b T C 15: 101,194,841 W122R possibly damaging Het
Adgrv1 C T 13: 81,444,538 R4294H probably benign Het
Afdn A G 17: 13,804,053 T74A probably damaging Het
Aff3 T A 1: 38,208,017 D829V probably benign Het
Akr1c12 T C 13: 4,275,773 Q107R probably benign Het
Apc T A 18: 34,269,199 F131I probably benign Het
Atp13a1 T A 8: 69,806,774 L1036H probably damaging Het
BC035044 A C 6: 128,890,892 probably benign Het
C1rl A G 6: 124,508,576 D302G probably benign Het
C2cd6 A C 1: 59,077,934 D133E probably benign Het
Cacna1c T A 6: 118,652,710 Y1061F probably damaging Het
Cav1 A G 6: 17,308,035 D62G probably damaging Het
Ccdc130 T C 8: 84,258,689 E317G probably benign Het
Ccdc77 T C 6: 120,350,281 M68V probably damaging Het
Cd55 A T 1: 130,447,611 probably benign Het
Cdc27 C A 11: 104,522,776 A380S probably damaging Het
Cenpb A T 2: 131,179,557 I107K probably damaging Het
Cep135 T G 5: 76,621,340 H612Q possibly damaging Het
Chd1l A T 3: 97,563,533 N815K probably damaging Het
Cldn20 C T 17: 3,532,717 T55M possibly damaging Het
Depdc1a A T 3: 159,516,042 I208L probably benign Het
Dgkb C T 12: 38,084,224 A43V possibly damaging Het
Dgkb C T 12: 38,604,105 T741I probably damaging Het
Dhx16 A G 17: 35,886,184 N653S probably damaging Het
Dnah5 T A 15: 28,438,183 S3987T probably benign Het
Dst T A 1: 34,295,196 I4835N probably damaging Het
Esrrb A G 12: 86,514,340 I288V probably damaging Het
Fam214b A T 4: 43,033,687 F489I probably damaging Het
Fnta C T 8: 26,007,313 W169* probably null Het
Golga4 T C 9: 118,536,792 L304P probably damaging Het
Hace1 A G 10: 45,590,266 probably null Het
Ino80b G T 6: 83,124,131 probably null Het
Kcmf1 G A 6: 72,843,099 R306C probably damaging Het
Lrrc46 G A 11: 97,036,479 T92I possibly damaging Het
Man2b1 T C 8: 85,097,447 V991A possibly damaging Het
Mga A G 2: 119,946,295 N1770S probably damaging Het
Mgat4e T C 1: 134,541,206 T367A probably benign Het
Mtr A G 13: 12,188,106 S1204P probably damaging Het
Myo15 G A 11: 60,526,661 probably null Het
Nktr T C 9: 121,731,519 S74P probably damaging Het
Noct T C 3: 51,250,087 V282A possibly damaging Het
Nsd3 T A 8: 25,640,630 S4T probably damaging Het
Olfr1022 T A 2: 85,869,370 Y259* probably null Het
Olfr488 A G 7: 108,255,902 S79P probably damaging Het
Pds5a T A 5: 65,652,439 L393F probably damaging Het
Prex2 C T 1: 11,266,035 R1486C probably damaging Het
Rc3h2 T C 2: 37,382,016 T768A probably damaging Het
Rin3 A T 12: 102,369,325 E418D probably benign Het
Rnf214 G T 9: 45,867,588 T586N probably damaging Het
Samd4b A G 7: 28,401,860 S667P probably damaging Het
Sec14l2 T C 11: 4,111,161 Y100C probably damaging Het
Slc46a2 T C 4: 59,914,077 E282G probably benign Het
Themis A C 10: 28,781,766 N110T possibly damaging Het
Tln1 C A 4: 43,543,165 S1333I probably benign Het
Tmem53 T C 4: 117,268,428 V224A possibly damaging Het
Tmtc4 T A 14: 122,925,979 K664N possibly damaging Het
Tnni3k T C 3: 154,969,285 D201G probably damaging Het
Tnxb A G 17: 34,693,924 E1681G probably damaging Het
Trhde A T 10: 114,504,198 D567E probably damaging Het
Tsc2 T C 17: 24,609,127 M788V probably benign Het
Ube3a A G 7: 59,276,902 Y476C probably damaging Het
Ubiad1 T C 4: 148,436,225 N314S possibly damaging Het
Unc79 T A 12: 103,173,512 N2375K probably damaging Het
Vmn2r107 A T 17: 20,375,677 I831F probably damaging Het
Vwa3b T A 1: 37,085,286 C322S probably benign Het
Wdr78 T C 4: 103,049,561 D685G probably damaging Het
Wnk1 A T 6: 119,962,955 H238Q probably benign Het
Wnk2 A G 13: 49,146,605 Y210H probably damaging Het
Wwc2 T C 8: 47,851,908 D894G unknown Het
Yes1 T A 5: 32,653,037 F180Y probably damaging Het
Zbtb46 T C 2: 181,391,269 Y533C probably damaging Het
Zfp57 T C 17: 37,006,050 S7P possibly damaging Het
Zzef1 T C 11: 72,911,264 probably null Het
Other mutations in Nol11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00646:Nol11 APN 11 107173460 missense probably benign
IGL01656:Nol11 APN 11 107189172 missense probably benign 0.00
IGL01687:Nol11 APN 11 107186869 missense probably damaging 0.97
IGL02179:Nol11 APN 11 107189256 start codon destroyed probably null 1.00
IGL02538:Nol11 APN 11 107173373 missense probably benign 0.02
IGL03395:Nol11 APN 11 107175722 missense probably benign 0.06
R0526:Nol11 UTSW 11 107184771 nonsense probably null
R1734:Nol11 UTSW 11 107175623 missense possibly damaging 0.80
R2143:Nol11 UTSW 11 107181055 missense probably benign 0.03
R2385:Nol11 UTSW 11 107189206 missense probably benign 0.40
R3036:Nol11 UTSW 11 107173244 missense possibly damaging 0.87
R3522:Nol11 UTSW 11 107173628 missense possibly damaging 0.94
R3895:Nol11 UTSW 11 107168347 missense probably damaging 1.00
R4404:Nol11 UTSW 11 107173725 missense probably damaging 1.00
R4664:Nol11 UTSW 11 107181000 missense possibly damaging 0.89
R4705:Nol11 UTSW 11 107184718 intron probably benign
R5704:Nol11 UTSW 11 107173369 missense probably benign 0.43
R5991:Nol11 UTSW 11 107171145 missense probably benign 0.02
R6221:Nol11 UTSW 11 107171616 missense possibly damaging 0.50
R6222:Nol11 UTSW 11 107171616 missense possibly damaging 0.50
R6223:Nol11 UTSW 11 107171616 missense possibly damaging 0.50
R6285:Nol11 UTSW 11 107181034 missense probably benign 0.01
R7080:Nol11 UTSW 11 107180052 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCTGAAAGTGGAGGTCCC -3'
(R):5'- GCAACACTCACACGTTTATTTGGC -3'

Sequencing Primer
(F):5'- CAGGACAGCTATGTGGTCTTGATCC -3'
(R):5'- ATCATAGGGGCTCCAGTGATCAC -3'
Posted On2018-05-21